Incidental Mutation 'R9429:Sry'
ID 712850
Institutional Source Beutler Lab
Gene Symbol Sry
Ensembl Gene ENSMUSG00000069036
Gene Name sex determining region of Chr Y
Synonyms Tdy, Tdf
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R9429 (G1)
Quality Score 156.458
Status Not validated
Chromosome Y
Chromosomal Location 2662471-2663658 bp(-) (GRCm39)
Type of Mutation small deletion (10 aa in frame mutation)
DNA Base Change (assembly) GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG to GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG at 2662638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000088717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091178]
AlphaFold Q05738
Predicted Effect probably benign
Transcript: ENSMUST00000091178
SMART Domains Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036

DomainStartEndE-ValueType
HMG 4 74 2.76e-24 SMART
low complexity region 144 366 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Variations in expression of alleles on specific backgrounds result in partial and/or complete male to female sex reversal. Deletion of alleles results in XY females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A T 8: 33,919,165 (GRCm39) probably benign Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam7 G C 14: 68,771,080 (GRCm39) H15Q probably null Het
Adgrv1 A T 13: 81,567,468 (GRCm39) I5235N probably damaging Het
Adgrv1 A C 13: 81,741,165 (GRCm39) C100G probably damaging Het
Aebp1 A G 11: 5,821,649 (GRCm39) T1063A probably benign Het
Atmin A G 8: 117,670,307 (GRCm39) R48G probably benign Het
Atxn10 A G 15: 85,346,565 (GRCm39) E441G probably benign Het
Catsper1 T C 19: 5,389,755 (GRCm39) V505A possibly damaging Het
Chd5 T C 4: 152,447,364 (GRCm39) V471A probably damaging Het
Cma2 A G 14: 56,210,276 (GRCm39) I110V possibly damaging Het
Cnst A C 1: 179,432,566 (GRCm39) N243T probably damaging Het
Col15a1 A T 4: 47,310,439 (GRCm39) N1203I probably damaging Het
Col6a3 T A 1: 90,731,585 (GRCm39) H1556L probably benign Het
Crybg3 T A 16: 59,375,556 (GRCm39) K185N probably benign Het
Dnah1 G A 14: 30,997,499 (GRCm39) Q2620* probably null Het
Dusp10 A C 1: 183,801,091 (GRCm39) D286A probably benign Het
Erich6 A G 3: 58,536,935 (GRCm39) V252A possibly damaging Het
Fhod1 A G 8: 106,057,139 (GRCm39) L945P probably damaging Het
Foxh1 C T 15: 76,553,442 (GRCm39) R120Q probably null Het
Frmd4b T C 6: 97,279,252 (GRCm39) D591G probably damaging Het
Gbe1 G A 16: 70,292,203 (GRCm39) V512I probably benign Het
Ghitm A G 14: 36,852,655 (GRCm39) S142P probably damaging Het
Gldc C T 19: 30,091,172 (GRCm39) A808T possibly damaging Het
Gm14496 C T 2: 181,637,934 (GRCm39) T336I possibly damaging Het
Ido2 T C 8: 25,037,194 (GRCm39) T171A probably damaging Het
Kctd19 A T 8: 106,109,652 (GRCm39) I930N probably damaging Het
Kctd2 T C 11: 115,318,277 (GRCm39) Y187H probably damaging Het
L3hypdh T C 12: 72,124,203 (GRCm39) T246A probably damaging Het
Lama1 A G 17: 68,118,449 (GRCm39) M2554V Het
Laptm5 A G 4: 130,655,961 (GRCm39) Y93C Het
Mroh2b T A 15: 4,963,907 (GRCm39) L833Q probably damaging Het
Ms4a12 T C 19: 11,193,424 (GRCm39) D187G probably damaging Het
Muc4 C T 16: 32,576,098 (GRCm39) T1866I unknown Het
Myo1a G T 10: 127,543,247 (GRCm39) D168Y probably damaging Het
Nek1 C T 8: 61,559,892 (GRCm39) S1005L probably benign Het
Nrg1 T A 8: 32,308,592 (GRCm39) M523L probably benign Het
Nt5c2 T A 19: 46,877,459 (GRCm39) H494L probably benign Het
Oasl2 G A 5: 115,043,040 (GRCm39) V271I probably benign Het
Or13a1 T G 6: 116,471,292 (GRCm39) S241A probably damaging Het
Or52s1 C T 7: 102,861,871 (GRCm39) A268V possibly damaging Het
Or5e1 G T 7: 108,354,412 (GRCm39) M116I probably damaging Het
Per2 T C 1: 91,351,489 (GRCm39) T1006A probably benign Het
Phyhd1 C A 2: 30,156,917 (GRCm39) F19L probably benign Het
Pter T A 2: 12,985,112 (GRCm39) D147E probably benign Het
Rps6ka1 A C 4: 133,598,900 (GRCm39) L90V probably damaging Het
Rrp15 A T 1: 186,481,368 (GRCm39) D46E probably benign Het
Ryr2 A G 13: 11,809,459 (GRCm39) F789L probably damaging Het
Sepsecs T C 5: 52,801,294 (GRCm39) K456R probably benign Het
Septin11 G A 5: 93,321,397 (GRCm39) probably null Het
Sowahb T C 5: 93,191,080 (GRCm39) I546M possibly damaging Het
Spata31 C A 13: 65,070,336 (GRCm39) T828K probably benign Het
Ston1 A G 17: 88,943,034 (GRCm39) T147A probably benign Het
Tcf3 G A 10: 80,252,436 (GRCm39) P350S probably benign Het
Tek A G 4: 94,715,515 (GRCm39) D402G probably benign Het
Themis3 T C 17: 66,866,665 (GRCm39) R192G probably damaging Het
Tmc1 T A 19: 20,793,548 (GRCm39) I538F possibly damaging Het
Trpc3 T G 3: 36,705,777 (GRCm39) I473L probably benign Het
Ttll2 A T 17: 7,620,085 (GRCm39) L4Q probably damaging Het
Urb2 T A 8: 124,750,226 (GRCm39) Y5* probably null Het
Vav3 T A 3: 109,564,561 (GRCm39) Y673* probably null Het
Vmn1r32 T A 6: 66,530,237 (GRCm39) T180S probably benign Het
Vmn1r90 A T 7: 14,295,647 (GRCm39) N150K probably damaging Het
Zbed6 A C 1: 133,585,453 (GRCm39) I628R probably damaging Het
Zfp1007 A T 5: 109,824,334 (GRCm39) L372* probably null Het
Zfp750 G A 11: 121,404,693 (GRCm39) R61C probably damaging Het
Zfp87 A G 13: 74,520,703 (GRCm39) I125T probably damaging Het
Zfta T C 19: 7,399,594 (GRCm39) L447P probably damaging Het
Other mutations in Sry
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Sry UTSW Y 2,662,837 (GRCm39) small insertion probably benign
FR4340:Sry UTSW Y 2,662,824 (GRCm39) small insertion probably benign
FR4342:Sry UTSW Y 2,663,146 (GRCm39) small deletion probably benign
FR4342:Sry UTSW Y 2,662,835 (GRCm39) small insertion probably benign
FR4342:Sry UTSW Y 2,662,836 (GRCm39) small insertion probably benign
FR4342:Sry UTSW Y 2,662,839 (GRCm39) small insertion probably benign
FR4449:Sry UTSW Y 2,662,832 (GRCm39) small insertion probably benign
FR4449:Sry UTSW Y 2,662,818 (GRCm39) small insertion probably benign
FR4589:Sry UTSW Y 2,662,818 (GRCm39) small insertion probably benign
FR4737:Sry UTSW Y 2,663,195 (GRCm39) small deletion probably benign
FR4737:Sry UTSW Y 2,662,837 (GRCm39) small insertion probably benign
FR4737:Sry UTSW Y 2,662,838 (GRCm39) small insertion probably benign
FR4976:Sry UTSW Y 2,662,841 (GRCm39) small insertion probably benign
R0288:Sry UTSW Y 2,662,818 (GRCm39) missense unknown
R0506:Sry UTSW Y 2,662,864 (GRCm39) missense unknown
R0690:Sry UTSW Y 2,662,944 (GRCm39) small deletion probably benign
R0784:Sry UTSW Y 2,662,731 (GRCm39) missense unknown
R1373:Sry UTSW Y 2,662,864 (GRCm39) missense unknown
R1555:Sry UTSW Y 2,662,975 (GRCm39) missense unknown
R1638:Sry UTSW Y 2,663,149 (GRCm39) missense unknown
R2110:Sry UTSW Y 2,662,901 (GRCm39) missense unknown
R2212:Sry UTSW Y 2,663,339 (GRCm39) missense probably damaging 0.99
R3150:Sry UTSW Y 2,662,944 (GRCm39) small deletion probably benign
R3552:Sry UTSW Y 2,663,141 (GRCm39) missense unknown
R4877:Sry UTSW Y 2,662,864 (GRCm39) missense unknown
R4888:Sry UTSW Y 2,663,105 (GRCm39) missense unknown
R5028:Sry UTSW Y 2,663,312 (GRCm39) missense probably damaging 0.97
R5266:Sry UTSW Y 2,662,975 (GRCm39) missense unknown
R5305:Sry UTSW Y 2,662,982 (GRCm39) missense unknown
R5335:Sry UTSW Y 2,663,647 (GRCm39) missense probably benign 0.08
R5587:Sry UTSW Y 2,662,625 (GRCm39) missense unknown
R5915:Sry UTSW Y 2,662,612 (GRCm39) missense unknown
R6183:Sry UTSW Y 2,662,975 (GRCm39) missense unknown
R6184:Sry UTSW Y 2,662,975 (GRCm39) missense unknown
R6187:Sry UTSW Y 2,662,975 (GRCm39) missense unknown
R6976:Sry UTSW Y 2,662,938 (GRCm39) missense unknown
R7358:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
R7632:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
R7678:Sry UTSW Y 2,663,248 (GRCm39) missense possibly damaging 0.83
R7737:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
R7812:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
R7829:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
R8005:Sry UTSW Y 2,663,303 (GRCm39) missense possibly damaging 0.88
R8028:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
R8082:Sry UTSW Y 2,662,589 (GRCm39) missense unknown
R8212:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
R8223:Sry UTSW Y 2,663,204 (GRCm39) missense unknown
R8252:Sry UTSW Y 2,663,298 (GRCm39) missense possibly damaging 0.91
R8390:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
R9027:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
RF002:Sry UTSW Y 2,662,564 (GRCm39) small deletion probably benign
RF006:Sry UTSW Y 2,662,638 (GRCm39) small deletion probably benign
RF008:Sry UTSW Y 2,662,826 (GRCm39) small insertion probably benign
RF040:Sry UTSW Y 2,662,590 (GRCm39) small insertion probably benign
RF063:Sry UTSW Y 2,662,595 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTCATGAGACTGCCAACCAC -3'
(R):5'- GCCTGTTGATATCCCCACTG -3'

Sequencing Primer
(F):5'- ACAGGGCTGTGCTGAGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
Posted On 2022-05-16